Yonsei Med J.  2015 Mar;56(2):440-446. 10.3349/ymj.2015.56.2.440.

Dermatofibrosarcoma Protuberans: A Study of Clinical, Pathologic, Genetic, and Therapeutic Features in Korean Patients

• Zheng Z
• Piao J
• Lee JH
• Kim SE
• Kim SC
• Chung KY
• Roh MR

• KMID: 2070022
• DOI: http://doi.org/10.3349/ymj.2015.56.2.440

Abstract

PURPOSE
Dermatofibrosarcoma protuberans (DFSP) carries a translocation resulting in the collagen type I alpha 1 (COL1A1)-platelet-derived growth factor beta (PDGFB) fusion gene, which is responsible for PDGFB activation. The purpose of this study is to evaluate the clinicopathological, genetic, and therapeutic features of DFSP in Korean patients.
MATERIALS AND METHODS
Clinicopathological features of 37 patients with DFSP were reviewed. Multiplex reverse transcriptase-polymerase chain reaction (PCR) was carried out in 16 patients using formalin-fixed, paraffin-embedded tissues and specific primers for COL1A1 and PDGFB.
RESULTS
The mean age of 37 patients was 37.4 years old. The most common tumor location was the trunk. All patients were treated primarily with surgery: 34 (91.7%) cases with Mohs micrographic surgery (MMS) and 3 (8.3%) cases with wide local excision. The median follow-up time was 33.7 months. Two patients, one in each treatment group, demonstrated local recurrence during the follow-up period. The COL1A1-PDGFB fusion gene was expressed in 14 (87.5%) cases, demonstrated by reverse transcriptase PCR analysis. No association was found among the different COL1A1-PDGFB fusion transcripts, the various histological subtypes and clinical features.
CONCLUSION
Our results support the effectiveness of MMS in treating DFSP. The COL1A1-PDGFB fusion transcript was observed in 87.5% of patients. Therefore, COL1A1-PDGFB is a useful and accurate tool in diagnosing DFSP in Koreans.

Keyword

Dermatofibrosarcoma protuberans; collagen type I alpha 1-platelet-derived growth factor beta; histological subtype; Mohs micrographic surgery

MeSH Terms

Adolescent
Adult
Asian Continental Ancestry Group/*genetics
Collagen Type I/*genetics
DNA Primers
Dermatofibrosarcoma/ethnology/*genetics/*pathology/surgery
Female
Humans
Male
Middle Aged
Mohs Surgery
Multiplex Polymerase Chain Reaction
Neoplasm Recurrence, Local
Oncogene Proteins, Fusion/*genetics
Proto-Oncogene Proteins c-sis/*genetics
Republic of Korea
Reverse Transcriptase Polymerase Chain Reaction
Skin Neoplasms/ethnology/*genetics/*pathology/surgery
Treatment Outcome
Collagen Type I
DNA Primers
Oncogene Proteins, Fusion
Proto-Oncogene Proteins c-sis

Figure

• 

  Fig. 1 (A) Schematic presentation of variable positions of collagen type I alpha 1 (COL1A1) breakpoints in the COL1A1-platelet-derived growth factor beta (PDGFB) fusion gene. (B) Some examples of the COL1A1-PDGFB fusion transcript. DFSP, dermatofibrosarcoma protuberans; DFSP-FS, dermatofibrosarcoma protuberans-fibrosarcomatous variant.

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